Delayed speech and language development, and Hyperkeratosis

Low match SHAHEEN SYNDROME; SHNS

Shaheen syndrome is an autosomal recessive form of syndromic mental retardation. Affected individuals show severe intellectual disability, hypohidrosis, dental enamel hypoplasia, and hyperkeratosis of the palms and soles. Some may develop mild microcephaly (summary by Shaheen et al., 2013).

SHAHEEN SYNDROME; SHNS Is also known as ;shaheen syndrome

• Autosomal recessive inheritance
• Intellectual disability
• Microcephaly
• Delayed speech and language development
• Fever

SOURCES: ORPHANET OMIM MONDO UMLS

Low match ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME; AAMR

Alacrima, achalasia, and mental retardation syndrome (AAMR) is an autosomal recessive disorder characterized by onset of these 3 main features at birth or in early infancy. More variable features include hypotonia, gait abnormalities, anisocoria, and visual or hearing deficits. The disorder shows similarity to the triple A syndrome (OMIM ), but patients with AAMR do not have adrenal insufficiency (summary by Koehler et al., 2013).See also {300858} for a phenotypically similar disorder that shows X-linked inheritance.

• Autosomal recessive inheritance
• Intellectual disability
• Global developmental delay
• Generalized hypotonia
• Hearing impairment

SOURCES: OMIM UMLS GARD MONDO

Low match CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If; CDG1F

Congenital disorders of glycosylation (CDGs) are metabolic deficiencies in glycoprotein biosynthesis that usually cause severe mental and psychomotor retardation. Different forms of CDGs can be recognized by altered isoelectric focusing (IEF) patterns of serum transferrin. For a general discussion of CDGs, see CDG Ia (OMIM ) and CDG Ib (OMIM ).

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If; CDG1F Is also known as cdg if;cdgif;cdg syndrome type if; cdg-if; cdg1f; carbohydrate deficient glycoprotein syndrome type if; congenital disorder of glycosylation type 1f; congenital disorder of glycosylation type if

• Autosomal recessive inheritance
• Seizures
• Global developmental delay
• Generalized hypotonia
• Microcephaly

SOURCES: MESH GARD UMLS NCIT MONDO SCTID OMIM ORPHANET

Low match MUSCULAR DYSTROPHY, CONGENITAL, DAVIGNON-CHAUVEAU TYPE; MDCDC

MUSCULAR DYSTROPHY, CONGENITAL, DAVIGNON-CHAUVEAU TYPE; MDCDC Is also known as ;congenital muscular dystrophy, davignon-chauveau type

• Autosomal recessive inheritance
• Generalized hypotonia
• Scoliosis
• Motor delay
• Cryptorchidism

SOURCES: MONDO OMIM ORPHANET UMLS

Low match TYROSINEMIA, TYPE II; TYRSN2

Tyrosinemia type II is an autosomal recessive disorder characterized by keratitis, painful palmoplantar hyperkeratosis, mental retardation, and elevated serum tyrosine levels. The disorder is caused by deficiency of hepatic tyrosine aminotransferase (Natt et al., 1992).

TYROSINEMIA, TYPE II; TYRSN2 Is also known as richner-hanhart syndrome, tyrosine aminotransferase deficiency, tat deficiency, tyrosine transaminase deficiency, keratosis palmoplantaris with corneal dystrophy, oregon type tyrosinemia, tyrosinosis, oculocutaneous type;keratosis palmoplantaris-corneal dystrophy syndrome; oculocutaneous tyrosinemia; richner-hanhart syndrome; tyrosinemia due to tat deficiency; tyrosinemia due to tyrosine aminotransferase deficiency; tyrosinemia type ii

• Autosomal recessive inheritance
• Intellectual disability
• Seizures
• Pica
• Microcephaly

SOURCES: NCIT DOID MONDO OMIM GARD SCTID ORPHANET

Low match LIPOID PROTEINOSIS OF URBACH AND WIETHE

Lipoid proteinosis of Urbach and Wiethe is a rare autosomal recessive disorder typified by generalized thickening of skin, mucosae, and certain viscera. Classic features include beaded eyelid papules and laryngeal infiltration leading to hoarseness. The disorder is clinically heterogeneous, with affected individuals displaying differing degrees of skin scarring and infiltration, variable signs of hoarseness and respiratory distress, and in some cases neurologic abnormalities such as temporal lobe epilepsy. Histologically, there is widespread deposition of hyaline (glycoprotein) material and disruption/reduplication of basement membrane (summary by Hamada et al., 2002 and Hamada et al., 2003).

LIPOID PROTEINOSIS OF URBACH AND WIETHE Is also known as lipoid proteinosis, urbach-wiethe disease, hyalinosis cutis et mucosae;hyalinosis cutis et mucosae; urbach-wiethe disease

• Autosomal recessive inheritance
• Intellectual disability
• Seizures
• Pica
• High palate

SOURCES: SCTID MESH GARD DOID OMIM NCIT UMLS ORPHANET MONDO

Low match NOONAN SYNDROME 6; NS6

• Intellectual disability
• Short stature
• Generalized hypotonia
• Pica
• Hearing impairment

SOURCES: MESH GARD MONDO DOID OMIM UMLS

Low match NOONAN SYNDROME 8; NS8

Noonan syndrome-8 is an autosomal dominant disorder characterized by short stature, distinctive facial features, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. A subset of patients show intellectual disabilities (summary by Aoki et al., 2013).For a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (OMIM ).

• Autosomal dominant inheritance
• Intellectual disability
• Short stature
• Pica
• Scoliosis

SOURCES: DOID MONDO OMIM UMLS

Low match 6Q TERMINAL DELETION SYNDROME

6q terminal deletion syndrome is marked by a characteristic facial dysmorphism, short neck and psychomotor retardation, generally associated with a range of non-specific malformations.

• Seizures
• Global developmental delay
• Scoliosis
• Hypertelorism
• Nystagmus

SOURCES: ORPHANET

Low match CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Im; CDG1M

gene led to a 96 to 98% reduction in DK activity.

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Im; CDG1M Is also known as cdg im;cdgim, dolichol kinase deficiency, dk1 deficiency;cdg syndrome type im; cdg-im; cdg1m; carbohydrate deficient glycoprotein syndrome type im; congenital disorder of glycosylation type 1m; congenital disorder of glycosylation type im; dolichol kinase deficiency; hypotonia and ichthyosis due to dolichol phosphate deficiency

• Autosomal recessive inheritance
• Seizures
• Global developmental delay
• Short stature
• Generalized hypotonia

SOURCES: ORPHANET UMLS MESH OMIM MONDO SCTID GARD